Condition: Infantile Sialic Acid Storage Disease
rs794729653
in
SLC17A5
gene and
Infantile Sialic Acid Storage Disease
PMID 15805149
2005 Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.
PMID 10581036
1999 A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.